title: Role of the promoter polymorphism IL-6 -174G/C in dermatomyositis and systemic lupus erythematosus.
abstract: The promoter polymorphism -174G/C within the interleukin-6 gene (IL-6) has been reported to have a functional importance through the modulation of IL-6 gene expression in vitro and in vivo. IL-6 is thought to play an important role in autoimmune diseases and the effect of its receptor inhibitor-tocilizumab-has been recently studied. The aim of this case-control study was to investigate the association between the interleukin-6 -174G/C single nucleotide polymorphism and the susceptibility to dermatomyositis (DM) and systemic lupus erythematosus (SLE) in Bulgarian patients. Altogether, 87 patients-52 with SLE and 35 with DM-as well as 80 unrelated healthy controls were included in this study. All of them were analyzed by restriction fragment length polymorphism analysis (RFLP). The GG genotype and the G allele appeared to be associated with SLE, especially in women. None of the genotypes showed an association with DM. However, the G allele appeared to be associated with muscle weakness and it is a risk factor for elevated muscle enzymes. Our results indicate that IL-6 -174G/C polymorphism might be associated with the susceptibility to SLE especially in women. Although it is not associated with DM, it seems that IL-6 -174G/C polymorphism could modulate some clinical features in the autoimmune myopathies.
authors.affiliation: Department of Clinical Laboratory and Clinical Immunology, Medical University-Sofia, 1 Georgi Sofijski Street, 1431 Sofia, Bulgaria.
authors.forename: Maria
authors.initials: M
authors.lastname: Hristova
authors.forename: Lyubomir
authors.initials: L
authors.lastname: Dourmishev
authors.forename: Zornitsa
authors.initials: Z
authors.lastname: Kamenarska
authors.forename: Svetla
authors.initials: S
authors.lastname: Nikolova
authors.forename: Radka
authors.initials: R
authors.lastname: Kaneva
authors.forename: Anton
authors.initials: A
authors.lastname: Vinkov
authors.forename: Marta
authors.initials: M
authors.lastname: Baleva
authors.forename: Daniela
authors.initials: D
authors.lastname: Monova
authors.forename: Vanio
authors.initials: V
authors.lastname: Mitev
mesh_terms: D000328:Adult; D016022:Case-Control Studies; D003882:Dermatomyositis / Q000235:genetics* / Q000473:pathology; D005260:Female; D056726:Genetic Association Studies; D005838:Genotype; D006801:Humans; D015850:Interleukin-6 / Q000235:genetics*; D008180:Lupus Erythematosus, Systemic / Q000235:genetics* / Q000473:pathology; D008297:Male; D008875:Middle Aged; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide; D011401:Promoter Regions, Genetic; D012727:Sex Characteristics
chemical_list: D015850:Interleukin-6